NM_006876.3(B4GAT1):c.984C>G (p.Phe328Leu) AND Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000822257.6
Allele description [Variation Report for NM_006876.3(B4GAT1):c.984C>G (p.Phe328Leu)]
NM_006876.3(B4GAT1):c.984C>G (p.Phe328Leu)
Condition(s)
- Name:
- Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- Synonyms:
- WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, B3GNT1-RELATED; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13
- Identifiers:
- MONDO: MONDO:0014120; MedGen: C3809042; Orphanet: 899; OMIM: 615287
-
zs57h05.r1 NCI_CGAP_GCB1 Homo sapiens cDNA clone IMAGE:701625 5', mRNA sequence
zs57h05.r1 NCI_CGAP_GCB1 Homo sapiens cDNA clone IMAGE:701625 5', mRNA sequencegi|1940608|gnl|dbEST|933796|gb|AA29 1|Nucleotide
-
qc04b06.x1 Soares_fetal_heart_NbHH19W Homo sapiens cDNA clone IMAGE:1708595 3', ...
qc04b06.x1 Soares_fetal_heart_NbHH19W Homo sapiens cDNA clone IMAGE:1708595 3', mRNA sequencegi|3595856|gnl|dbEST|1885864|gb|AI1 .1|Nucleotide
-
oy09g03.x1 Soares_senescent_fibroblasts_NbHSF Homo sapiens cDNA clone IMAGE:1665...
oy09g03.x1 Soares_senescent_fibroblasts_NbHSF Homo sapiens cDNA clone IMAGE:1665364 3', mRNA sequencegi|3280848|gnl|dbEST|1780989|gb|AI0 .1|Nucleotide
-
AU145323 HEMBA1 Homo sapiens cDNA clone HEMBA1004513 3', mRNA sequence
AU145323 HEMBA1 Homo sapiens cDNA clone HEMBA1004513 3', mRNA sequencegi|11006844|gnl|dbEST|6574338|dbj|A 23.1|Nucleotide
-
RecName: Full=Peroxiredoxin-1; AltName: Full=HBP23; AltName: Full=Heme-binding 2...
RecName: Full=Peroxiredoxin-1; AltName: Full=HBP23; AltName: Full=Heme-binding 23 kDa protein; AltName: Full=Thioredoxin peroxidase 2; AltName: Full=Thioredoxin-dependent peroxide reductase 2; AltName: Full=Thioredoxin-dependent peroxiredoxin 1gi|2499470|sp|Q63716.1|PRDX1_RATProtein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024